Human Genome Project produces many benefits

November 17, 2011

For years, many considered the Human Genome Project to be biology's equivalent to "the moon shot." In collaboration with its global partners, the U.S. government did what no individual or company could do: invested in a technologically risky scientific enterprise with a potentially big payoff. The project was an overwhelming success, delivering the first rough draft human genome sequence in 2000 and the final high-quality version in 2003 — ahead of schedule and under budget.

Earlier this year, we learned about the long-term financial payoff from that investment. Battelle Technology Partnership Practice produced an independent study on the economic impact of the Human Genome Project. Among its findings was that for every $1 invested by the federal government, the Human Genome Project's impact has resulted in the return of $141 to the U.S. economy. Further, between 1988 and 2010, human genomics generated an economic output of $796 billion, personal income exceeding $244 billion, and 3.8 million job-years of employment (note that a job-year is equivalent to one person working full time for one year).

In just a single year, 2010, genomics-enabled industries generated more than $3.7 billion in federal taxes, and $2.3 billion in state and local taxes. In other words, governments at every level in the U.S. received more income in one year than was invested by the federal government ($5.6 billion in 2010 dollars) during the 13 years of the Human Genome Project.

Cash is good, but that is not the only (or even the most important) payoff. The medical and scientific visionaries who planned the Human Genome Project more than two decades ago could clearly see how genomics would ultimately advance medicine. And today, we are starting to see that vision become a reality.

Medical advances in the diagnosis and treatment of cancer will be realized first. After all, cancer is basically a genomic disease. Already, doctors can better categorize some cancers by examining the constellation of genomic changes in an individual tumor rather than simply establishing the anatomical origins of that tumor; this refined categorization will often lead to more appropriate treatment. For example, patients with metastatic melanoma who carry a mutation in BRAF kinase respond dramatically well to treatment with vemurafenib, a BRAF-kinase inhibitor. But this treatment option only works for patients with that mutation.

Genomic findings are also beginning to guide treatments for other common diseases. For example, the blood thinner clopidogrel is widely prescribed to prevent platelets from binding inappropriately and causing strokes or heart attacks. For this drug to work, the liver must first convert it into an active form. Some 30 percent of the population, however, carries a gene variant that compromises the liver's ability to activate clopidogrel; in these individuals, the drug does not work as effectively. Making the clinical picture even more complicated, a different variant heightens the effectiveness of clopidogrel, creating a rather small therapeutic window that doctors must identify empirically.

To help establish the right dose of clopidogrel for a patient, doctors can now test the patient's genome for relevant variants. In doing so, an appropriate dose of clopidogrel or a more expensive medication that does not require activation can be prescribed. Testing the patient's genome first can make the treatment more effective by minimizing the risk of prescribing the wrong dose.

Other exciting clinical genomic advances involving the study of rare diseases were reported earlier this year. For example, the Human Genome Sequencing Center at the Baylor College of Medicine discovered a rare mutation in California twins that explained their mysterious, but increasingly life-threatening neuromuscular symptoms. Through whole-genome sequencing, the group identified three genomic variants in the twins, and further narrowed down the cause to a mutation in a single gene — sepiapterin reductase — that disrupted a cellular pathway that produces three neurotransmitters (dopamine, serotonin and noradrenalin). This discovery led to the immediate treatment with both dopamine and serotonin, which dramatically reversed the twin's symptoms.

Similar rare mutations have been discovered through genomic analyses performed by the National Institutes of Health (NIH) Undiagnosed Diseases Program. As one example, several members of a Kentucky family suffered from severe, symptomatic calcification that narrowed their leg arteries so severely that they could only walk a few blocks without pain. Genomic analyses led to the discovery of a single mutation in a gene, NT5E, involved in calcium metabolism. Pinpointing the genetic cause has suggested several therapeutic approaches to the family's condition that NIH physicians are now developing.

While the list of examples where genomic analyses are providing answers or new therapeutic approaches to vexing clinical problems is growing, much basic research remains to be done to ensure a productive implementation of genomics for clinical care. For example, a large number of genome-wide association studies have shown that many genetic variants contributing to medical conditions are outside of the protein-coding regions of our DNA, for example in the regions of the genome that regulate gene activity. A tremendous amount of work remains to be done to establish how these variants contribute to disease.

And the field will need to work on pragmatic clinical problems as well, such as establishing how to get important genomic information into electronic medical records (in anticipation of electronic medical records becoming universal) and how to establish robust medical informatics tool that healthcare providers can readily use to interpret the genomic information about individual patients.

This is a remarkable time. We can now clearly see the outlines of the impact that genomics will have on medical care, as well as some of the challenges that remain. There is little doubt that the predicted benefits of the Human Genome Project, originally envisioned more than 25 years ago, are beginning to arrive — both economically and clinically.

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3. Michael Theroux (December 12, 2011, 14:45)
Dr. Green, we are pleased to have provided coverage for the start of chemcial screening under the Tox21 program. Teru Talk web service is focused on the clean conversion of waste and biomass to energy, fuels and other commodities. We have tracked and reported upon California's Green Chemistry efforts, for which Tox21 provides an excellent resource. Please add us to your media advisory list for receipt of future press releases related to our industrial sector and to this project in particular. Feel free to contact me directly with any questions.

Past Comments for the November 17, 2012 Director's Page

1. Paul (November 26, 2011, 16:16)
For my science project, I need the eye lens gene sequence(s). Can you help me with this?

2. Roger (November 18, 2011, 12:38)
This is some good stuff and I can imagine the benfits 50 years from now. Keep up the good work.